Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

被引：30

作者：

Revencu, N. ^{[1
,2
]}

Boon, L. M. ^{[1
,3
]}

Dompmartin, A. ^{[4
]}

Rieu, P. ^{[5
]}

Busch, W. L. ^{[7
]}

Dubois, J. ^{[10
]}

Forzano, F. ^{[13
]}

van Hagen, J. M.

Halbach, S. ^{[8
]}

Kuechler, A. ^{[14
]}

Lachmeijer, A. M. A. ^{[6
]}

Lahde, J.

Russell, L. ^{[11
]}

Simola, K. O. J.

Mulliken, J. B. ^{[9
,12
]}

Vikkula, M. ^{[1
]}

机构：

[1] Catholic Univ Louvain, Clin Univ St Luc, Duve Inst, Lab Human Mol Genet, Brussels, Belgium

[2] Catholic Univ Louvain, Clin Univ St Luc, Ctr Human Genet, Brussels, Belgium

[3] Catholic Univ Louvain, Clin Univ St Luc, Div Plast Surg, Vasc Anomalies Ctr, Brussels, Belgium

[4] Univ Caen Basse Normandie, CHU Caen, Dept Dermatol, Caen, France

[5] Univ Nijmegen, St Rabdoud, UMC, Kinderchirurg, Nijmegen, Netherlands

[6] Vrije Univ Amsterdam, Dept Clin Genet, Med Ctr, Amsterdam, Netherlands

[7] Northwest Perinatal Ctr, Portland, OR USA

[8] Univ Chicago, Dept Human Genet, Chicago, IL USA

[9] Harvard Med Sch, Childrens Hosp, Dept Plast & Oral Surg, Boston, MA USA

[10] Sainte Justine Mother Child Univ Hosp, Dept Med Imaging, Montreal, PQ, Canada

[11] McGill Univ, Dept Med Genet, Hlth Ctr, Montreal, PQ, Canada

[12] Tampere Univ Hosp, Dept Pediat, Tampere, Finland

[13] Galliera Hosp, Med Genet Unit, Genoa, Italy

[14] Univ Klinikum Essen, Inst Humangenet, Essen, Germany

来源：

MOLECULAR SYNDROMOLOGY | 2013年 / 4卷 / 04期

关键词：

Klippel-Trenaunay syndrome; Capillary malformation; Capillary malformation-arteriovenous malformation; Overgrowth; Parkes Weber syndrome; RASA1; p120RASGAP;

D O I：

10.1159/000349919

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation-arteriovenous malformation (CM-AVM) from overlapping disorders. Copyright (C) 2013 S. Karger AG, Basel

引用

页码：173 / 178

页数：6

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